ESPE Abstracts

Introduction: X-linked hypophosphatemia (XLH) is a rare, inherited disease that affects approximately 1 in 20,000 individuals. XLH is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Children with XLH experience abnormal bone development, rickets, osteomalacia, impaired growth, dental abscesses, craniosynostosis ...

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

A 12 year old boy sustained a severe head injury by a passing car whilst crossing the road. Injuries were confined to massive basal skull fracture, right sided blindness, acute onset diabetes insipidus, extradural and subdural bleeding requiring surgical decompression. Pre-operative physical examination revealed a healthy looking boy, height 60th centile for age, Tanner stage III puberty, 10 ml testes bilaterally. MR head demonstrated apparent pituitary stalk transection and r...

Adrenal insufficiency of any cause results in major morbidity and increased lifetime risk for adrenal crisis and potential mortality. A majority of those affected by disorders of either congenital or acquired origin have deficiencies of both glucocorticoid and mineralocorticoid. Preferred replacement treatment for infants, children and adolescents with growth potential is considered to be with hydrocortisone and fludrocortisone.Both medications are advoc...

In children with X-linked hypophosphatemia (XLH), excess circulating fibroblast growth factor 23 (FGF23) causes hypophosphatemia with consequent rickets, skeletal deformities, and impairments in growth and mobility. Compared to continuation with conventional therapy (oral phosphate and active vitamin D [Pi/D]), switching to treatment with burosumab, a fully human monoclonal antibody against FGF23, showed significantly greater improvement in phosphate homeostasis, rickets sever...

In children with XLH, high circulating levels of FGF23 cause hypophosphatemia with consequent rickets, skeletal deformities, and growth impairment. Conventional therapy consists of multiple daily doses of oral phosphate and active vitamin D (Pi/D). Burosumab is a fully human monoclonal antibody against FGF23 indicated for the treatment of XLH. In the active-control study CL301 (NCT02915705), 61 children with XLH (1–12 years old) were randomized (1:1) to receive subcutaneo...

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...

A 15-year-old boy, an active sportsperson, presented to an orthopaedic surgeon with a painful left elbow. He had no history of preceding trauma, had full range of motion of his elbow and was systemically well. Imaging demonstrated extra articular calcification at the distal humerus. Serum phosphate was elevated at 2.53mmol/l [1.10-1.80] with calcium 2.48mmol/l [2.10-2.60] and tubular reabsorption of phosphate of 94.6% [82-100%]. He was then referred for endocrine assessment, w...